Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut VWA3B 200403 broad.mit.edu 37 2 98750306 98750306 + Missense_Mutation SNP A A G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:98750306A>G uc002syo.3 + 6 1156 c.892A>G c.(892-894)Aga>Gga p.R298G VWA3B_uc010yvh.2_Missense_Mutation_p.R148G|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Missense_Mutation_p.R298G|VWA3B_uc002syn.1_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 298 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATTTGCCGAGAGAACAGAGTG 0.473000 5 323 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100366293 100366293 + Nonsense_Mutation SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr1:100366293G>A uc001dsi.1 + 25 3864 c.3464G>A c.(3463-3465)tGg>tAg p.W1155* AGL_uc001dsj.1_Nonsense_Mutation_p.W1155*|AGL_uc001dsk.1_Nonsense_Mutation_p.W1155*|AGL_uc001dsl.1_Nonsense_Mutation_p.W1155*|AGL_uc001dsm.1_Nonsense_Mutation_p.W1139*|AGL_uc001dsn.1_Nonsense_Mutation_p.W1138* NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 1155 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GATGCTGTGTGGTGGTGGCTG 0.428000 5 329 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87031478 87031478 + Missense_Mutation SNP C C G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr7:87031478C>G uc003uiv.1 - 27 3871 c.3795G>C c.(3793-3795)caG>caC p.Q1265H ABCB4_uc003uiw.1_Missense_Mutation_p.Q1258H|ABCB4_uc003uix.1_Missense_Mutation_p.Q1211H NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 1265 ABC transporter 2. cellular lipid metabolic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GTGCCAGCAGCTGCTGATGCG 0.443000 5 185 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 823129 823129 + Splice_Site SNP C C G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr16:823129C>G uc002cjz.1 - 10 2139 c.2139_splice c.e10+1 p.Q713_splice NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 362 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 AGCCGTGCACCTGTGCGAGCT 0.657000 6 102 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4020293 4020293 + Missense_Mutation SNP G G C TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr17:4020293G>C uc002fxe.3 - 2 731 c.667C>G c.(667-669)Ctg>Gtg p.L223V ZZEF1_uc002fxk.1_Missense_Mutation_p.L223V NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 223 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGCTGATCCAGAGACTCCTTC 0.512000 17 322 0 0 1 0 0 S100A7 6278 broad.mit.edu 37 1 153430314 153430314 + Missense_Mutation SNP C C G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr1:153430314C>G uc001fbv.1 - 2 345 c.274G>C c.(274-276)Gga>Cga p.G92R NM_002963 NP_002954 P31151 S10A7_HUMAN Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA. 92 angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus RAGE receptor binding|calcium ion binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCGCTGCTCCATGGCTCTGC 0.517000 4 121 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5727298 5727298 + Missense_Mutation SNP C C A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr19:5727298C>A uc002mda.3 + 2 207 c.146C>A c.(145-147)cCt>cAt p.P49H CATSPERD_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN Homo sapiens transmembrane protein 146 (TMEM146), mRNA. 49 integral to membrane TATTTTCATCCTACAACAACA 0.303000 3 93 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134029936 134029936 + Missense_Mutation SNP C C G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr11:134029936C>G uc001qhd.1 - 28 4324 c.3718G>C c.(3718-3720)Gac>Cac p.D1240H NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript NM_015261 NP_056076 P42695 CNDD3_HUMAN Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA. 1240 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GCAAAGAAGTCCTTGAGCTCA 0.473000 6 98 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72366698 72366698 + Missense_Mutation SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr17:72366698G>A uc021ucp.1 + 2 397 c.388G>A c.(388-390)Gtc>Atc p.V130I GPR142_uc010wqy.2_Missense_Mutation_p.V133I NM_181790 NP_861455 Q7Z601 GP142_HUMAN Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA. 133 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CACGCCCCACGTCAGCGGGCT 0.617000 6 44 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138668623 138668623 + Missense_Mutation SNP C C T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chrX:138668623C>T uc011mwo.1 - 26 2935 c.2774G>A c.(2773-2775)aGt>aAt p.S925N MCF2_uc004fav.3_Missense_Mutation_p.S865N|MCF2_uc004fau.3_Missense_Mutation_p.S849N|MCF2_uc010nsh.2_Intron|MCF2_uc011mwm.2_Intron|MCF2_uc011mwl.2_Missense_Mutation_p.S826N|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Missense_Mutation_p.S909N NM_001171876 NP_001165347 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 3, mRNA. 849 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction Rho guanyl-nucleotide exchange factor activity|protein binding NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTCCTCAGTACTTATAAAAGC 0.383000 7 92 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43489545 43489545 + Silent SNP G G T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr15:43489545G>T uc001zrb.4 - 12 2421 c.2121C>A c.(2119-2121)acC>acA p.T707T EPB42_uc001zqz.4_Silent_p.T344T|EPB42_uc001zra.4_Silent_p.T677T|EPB42_uc010udm.2_Silent_p.T599T NM_000119 NP_000110 P16452 EPB42_HUMAN Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. 677 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TTTTATAGTTGGTTAGGTTCT 0.483000 3 70 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159477861 159477861 + Silent SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:159477861G>A uc002tzv.3 + 5 791 c.531G>A c.(529-531)caG>caA p.Q177Q PKP4_uc002tzt.1_Silent_p.Q29Q|PKP4_uc002tzu.3_Silent_p.Q177Q|PKP4_uc002tzw.3_Silent_p.Q177Q|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.Q175Q|PKP4_uc002uaa.3_Silent_p.Q29Q NM_003628 NP_003619 Q99569 PKP4_HUMAN Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA. 177 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ACAGACAGCAGCATTCATTCA 0.453000 HNSCC(62;0.18) 3 100 0 0 1 0 0 INPP5B 3633 broad.mit.edu 37 1 38409493 38409493 + Silent SNP G G C TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr1:38409493G>C uc001ccg.1 - 3 319 c.225C>G c.(223-225)gtC>gtG p.V75V INPP5B_uc009vvk.1_Silent_p.V16V|INPP5B_uc001cch.3_Silent_p.V16V NM_005540 NP_005531 P32019 I5P2_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA. 75 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AATCCCGCGAGACTGGCACTA 0.582000 6 207 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101138612 101138612 + Missense_Mutation SNP C C T rs141908807 byFrequency TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chrX:101138612C>T uc011mrl.2 - 6 2137 c.1787G>A c.(1786-1788)cGa>cAa p.R596Q ZMAT1_uc004eim.3_Missense_Mutation_p.R425Q|ZMAT1_uc004ein.3_Missense_Mutation_p.R425Q|ZMAT1_uc011mrm.2_Missense_Mutation_p.R425Q NM_001011657 NP_001011657 A7MD47 A7MD47_HUMAN Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA. 425 nucleus zinc ion binding p.R425Q(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TTTCTTTTTTCGATGCTTAAG 0.383000 4 65 0 0 1 0 0 FBXO41 150726 broad.mit.edu 37 2 73486158 73486158 + Silent SNP C C T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:73486158C>T uc021vjh.1 - 11 2670 c.2580G>A c.(2578-2580)agG>agA p.R860R NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN Homo sapiens F-box protein 41 (FBXO41), mRNA. 860 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 AGAAGCCGGGCCTCCGTCGCA 0.677000 4 7 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42812881 42812881 + Missense_Mutation SNP A A G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr21:42812881A>G uc002yzh.3 + 10 1606 c.659A>G c.(658-660)aAt>aGt p.N220S MX1_uc010goq.3_Missense_Mutation_p.N220S|MX1_uc002yzi.3_Missense_Mutation_p.N220S NM_001144925 NP_002453 P20591 MX1_HUMAN Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 1, mRNA. 220 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GTCCCCAGTAATGTGGACATC 0.572000 14 147 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62414648 62414648 + Silent SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr11:62414648G>A uc001nud.3 - 1 2957 c.2904C>T c.(2902-2904)cgC>cgT p.R968R GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN Homo sapiens integrator complex subunit 5 (INTS5), mRNA. 968 snRNA processing integral to membrane|integrator complex protein binding p.G967S(1) breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CCCGAATGAAGCGACCCCGCT 0.597000 5 171 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46619560 46619560 + Missense_Mutation SNP T T A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr13:46619560T>A uc010tfw.1 - 0 89 c.83A>T c.(82-84)gAg>gTg p.E28V ZC3H13_uc001vas.1_Missense_Mutation_p.E28V|ZC3H13_uc001vat.1_Missense_Mutation_p.E28V NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA. 28 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCCAAGCCTCTCAAATACACT 0.403000 7 250 0 0 1 0 0 SOWAHC 65124 broad.mit.edu 37 2 110373405 110373405 + Missense_Mutation SNP G G T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:110373405G>T uc002tfb.3 + 0 1495 c.1339G>T c.(1339-1341)Ggg>Tgg p.G447W SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.3_5'Flank|SEPT10_uc002tex.3_5'Flank|SEPT10_uc002tey.3_5'Flank|SEPT10_uc010ywv.2_5'Flank NM_023016 NP_075392 Q53LP3 ANR57_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member C (SOWAHC), mRNA. 447 CTCGGCTGAGGGGTGGGTCGG 0.552000 3 82 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 42 64 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149931175 149931175 + Silent SNP C C T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chrX:149931175C>T uc004feh.1 + 15 2130 c.1995C>T c.(1993-1995)tcC>tcT p.S665S MTMR1_uc011mya.1_Silent_p.S563S|MTMR1_uc004fei.3_Silent_p.S657S|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron NM_003828 NP_003819 Q13613 MTMR1_HUMAN Homo sapiens myotubularin related protein 1 (MTMR1), mRNA. 657 plasma membrane protein tyrosine phosphatase activity p.S657S(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCCACTCCGCCACCTCCG 0.672000 20 62 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102087134 102087134 + Missense_Mutation SNP A A T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr7:102087134A>T uc010lhz.1 + 3 635 c.400A>T c.(400-402)Atc>Ttc p.I134F ORAI2_uc003uzj.2_Missense_Mutation_p.I134F|ORAI2_uc003uzk.2_Missense_Mutation_p.I134F|ORAI2_uc011kks.1_Missense_Mutation_p.I57F NM_001126340 NP_116220 Q96SN7 ORAI2_HUMAN Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA. 134 integral to membrane protein binding p.S133A(1) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CCTGAACTCCATCAGCGAGTC 0.627000 5 230 0 0 1 0 0 DBN1 1627 broad.mit.edu 37 5 176886214 176886214 + Silent SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr5:176886214G>A uc003mgx.2 - 11 1299 c.1017C>T c.(1015-1017)agC>agT p.S339S DBN1_uc011dga.1_Silent_p.S69S|DBN1_uc003mgy.2_Silent_p.S337S|DBN1_uc010jkn.1_Silent_p.S287S|DBN1_uc003mgz.1_Silent_p.S320S NM_080881 NP_543157 Q16643 DREB_HUMAN Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA. 337 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTCAGACGGGCTCCGCGTGG 0.697000 4 215 0 0 1 0 0 BC018860 0 broad.mit.edu 37 M 7207 7208 + Frame_Shift_Ins INS - - T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chrM:7207_7208insT uc011mfh.2 + 0 1307_1308 c.306_307insT c.(304-309)cggaatfs p.R102fs JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank|AD_1_uc022bqu.1_5'Flank Homo sapiens cDNA: FLJ22894 fis, clone KAT04907. CGGCCTATCCGGAATGCCCCGA 0.436 4 9 --- --- --- ---